Canonical Allele Identifier: CA412964493

Gene: CACNA1F

Linked Data

• dbSNP Id: rs1557107839
• gnomAD v2: X-49074437-T-G
• gnomAD v4: X-49217978-T-G
• MyVariant Identifiers: chrX:g.49074437T>G (hg19) ; chrX:g.49217978T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49217978T>G , CM000685.2:g.49217978T>G	GRCh38
NC_000023.10:g.49074437T>G , CM000685.1:g.49074437T>G	GRCh37
NC_000023.9:g.48961381T>G	NCBI36
NG_009095.2:g.20389A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.2956A>C MANE Select	ENSP00000321618.6:p.Ile986Leu
ENST00000323022.9:c.2956A>C	ENSP00000321618.5:p.Ile986Leu
ENST00000376251.5:c.2794A>C	ENSP00000365427.1:p.Ile932Leu
ENST00000376265.2:c.2989A>C	ENSP00000365441.2:p.Ile997Leu
NM_001256789.2:c.2956A>C	NP_001243718.1:p.Ile986Leu
NM_001256790.2:c.2794A>C	NP_001243719.1:p.Ile932Leu
NM_005183.3:c.2989A>C	NP_005174.2:p.Ile997Leu
XM_011543983.1:c.2794A>C	XP_011542285.1:p.Ile932Leu
XM_011543983.2:c.2794A>C	XP_011542285.1:p.Ile932Leu
XM_017029836.1:c.223A>C	XP_016885325.1:p.Ile75Leu
NM_001256789.3:c.2956A>C MANE Select	NP_001243718.1:p.Ile986Leu
NM_001256790.3:c.2794A>C	NP_001243719.1:p.Ile932Leu
NM_005183.4:c.2989A>C	NP_005174.2:p.Ile997Leu